Variant report

Variant	rs11148230
Chromosome Location	chr13:52423280-52423281
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52422501..52424987-chr13:52427770..52430154,2	MCF-7	breast:
2	chr13:52398927..52403579-chr13:52421576..52424929,4	K562	blood:
3	chr13:52418376..52421137-chr13:52421569..52423678,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11618366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11619076	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17600458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs913901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv900081	chr13:52406404-52426096	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52419600-52423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:52419600-52423600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr13:52419600-52423600	Weak transcription	Ovary	ovary
4	chr13:52419600-52423600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:52419600-52423800	Weak transcription	Spleen	Spleen
6	chr13:52419600-52425800	Weak transcription	Right Atrium	heart
7	chr13:52419600-52426600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:52420000-52432600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:52420200-52423400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:52422400-52424000	Enhancers	HepG2	liver
11	chr13:52422600-52423400	Enhancers	NHDF-Ad	bronchial
12	chr13:52422600-52423600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:52422600-52423800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:52422600-52423800	Enhancers	NHLF	lung
15	chr13:52422600-52424000	Enhancers	NH-A	brain
16	chr13:52422800-52423400	Enhancers	Osteobl	bone
17	chr13:52422800-52423600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:52422800-52423600	Enhancers	Stomach Smooth Muscle	stomach
19	chr13:52422800-52423600	Enhancers	Hela-S3	cervix
20	chr13:52422800-52423800	Enhancers	HSMM	muscle
21	chr13:52422800-52423800	Enhancers	HUVEC	blood vessel
22	chr13:52422800-52424000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:52422800-52424000	Enhancers	Aorta	Aorta
24	chr13:52422800-52424200	Enhancers	Placenta	Placenta
25	chr13:52423200-52423600	Enhancers	Fetal Heart	heart
26	chr13:52423200-52426000	Enhancers	Primary neutrophils fromperipheralblood	blood

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